Preimplantation Genetic Testing

Are you undergoing in vitro fertilization (IVF) or considering it? You may be considering IVF due to infertility reasons or because you want to be able to do testing prior to implantation for a genetic disease that you and/or your partner are known to “carry”.

If you are undergoing IVF, you may be offered preimplantation genetic testing such as preimplantation genetic diagnosis (PGD) or preimplantation genetic screening (PGS). These tests are both only available in conjunction with IVF as they are performed on embryos prior to implantation in mom’s uterus.

With both PGD and PGS, embryos are tested for specific genetic conditions and only those embryos that do not have the genetic condition(s) are placed in mom’s uterus.

The core elements of PGD & PGS are the following:

1-2 cells are removed from the embryo (often at 3 or 5 days after fertilization)

The chromosomes and the genes in those 1-2 cells are the same as the chromosomes and genes in the remaining embyro cells*

By testing one cell from the embryo for genetic conditions one can then choose to implant only embryos without the genetic conditions being screened

*The genetic information in the cell(s) removed is not always the same as that of the remaining embryo. This is more of a concern with PGS than PGD and you can talk with your reproductive endocrinologist or genetic counselor about this further.

Deciding whether for not to pursue PGD and/or PGS is a big decision. To read more about these testing options click here.